Canonical Allele Identifier: CA2293646656

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070759T= , CM000680.2:g.31070759T=	GRCh38
NC_000018.9:g.28650725T= , CM000680.1:g.28650725T=	GRCh37
NC_000018.8:g.26904723T=	NCBI36
NG_008208.2:g.36667A= , LRG_400:g.36667A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1788A=	ENSP00000507826.1:p.Val596=
ENST00000251081.8:c.2217A=	ENSP00000251081.6:p.Val739=
ENST00000280904.11:c.2217A= MANE Select	ENSP00000280904.6:p.Val739=
ENST00000648081.1:c.1788A=	ENSP00000497441.1:p.Val596=
ENST00000251081.6:c.2217A=	ENSP00000251081.6:p.Val739=
ENST00000280904.10:c.2217A=	ENSP00000280904.6:p.Val739=
NM_004949.4:c.2217A=	NP_004940.1:p.Val739=
NM_024422.4:c.2217A=	NP_077740.1:p.Val739=
XM_005258206.3:c.1788A=	XP_005258263.1:p.Val596=
XM_005258206.4:c.1788A=	XP_005258263.1:p.Val596=
NM_004949.5:c.2217A=	NP_004940.1:p.Val739=
NM_024422.6:c.2217A= MANE Select	NP_077740.1:p.Val739=